Short stature due to GHSR deficiency
Synonyms: Ghrelin receptor deficiency · Short stature due to growth hormone secretagogue receptor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature due to GHSR deficiency | Ghrelin receptor deficiency · Short stature due to growth hormone secretagogue receptor deficiency |
| fr | Petite taille par déficit en GHSR | Petite taille par déficit en récepteur des secrétagogues de l'hormone de croissance |
| de | Kleinwuchs durch GHSR-Mangel | Ghrelin-Rezeptor-Mangel · Kleinwuchs durch Wachstumshormon-Sekretagogum-Rezeptor-Mangel |
| es | Talla baja por deficiencia de GHSR | Deficiencia del receptor de ghrelina · Talla baja por deficiencia del receptor de secretagogos de la hormona de crecimiento |
| it | Bassa statura da deficit di GHSR | Bassa statura da deficit del recettore secretagogo dell'ormone della crescita · Deficit del recettore della grelina |
| nl | Kleine gestalte door GHSR-deficiëntie | Ghrelin-receptordeficiëntie · Kleine gestalte door groeihormoonsecretagoge receptordeficiëntie |
| pt | Baixa estatura devido à deficiência de GHRS | Baixa estatura devido à deficiência do receptor do secretagogo da hormona de crescimento |
| pl | Niski wzrost z powodu niedoboru GHSR | Niski wzrost z powodu niedoboru receptora dla substancji uwalniajacych GH |
| cs | Deficit ghrelinového receptoru | = en |
| uk | Низькорослість, зумовлена дефіцитом GHSR | Дефіцит рецепторів греліну · Низький зріст через дефіцит рецепторів секретагену гормону росту |
| zh | GHSR基因缺陷所致身材矮小 | 生长激素促分泌素受体缺陷所致身材矮小 |
| tr | GHSR eksikliği nedeniyle kısa boy | Ghrelin reseptör eksikliği · Büyüme hormonu salgılatıcı reseptör eksikliğine bağlı boy kısalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615925 | E | validated | |
| ICD-10 | E34.3 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | attributed | validated |
| MONDO | 0014403 | E | validated | |
| UMLS | C4707848 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:95488Non-acquired pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GHSR | Disease-causing germline mutation(s) in | Assessed | HGNC:4267 | ENSG00000121853 | 601898 | 3q26.31 | growth hormone secretagogue receptor |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 16511605[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16511605[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
11 annotations · validated 2016-01-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0004325 | Decreased body weight | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001510 | Growth delay | |
| HP:0001943 | Hypoglycemia | |
| HP:0001946 | Ketosis | |
| HP:0004322 | Short stature | |
| HP:0002013 | Vomiting | |
| Frequent (79-30%) | ||
| HP:0004323 | Abnormality of body weight | |
| Occasional (29-5%) | ||
| HP:0000823 | Delayed puberty | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 19789204[PMID]_16511600[PMID]_165111605[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314811
- This record as JSON: /data/d/314811.json